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1.
Surg Neurol Int ; 15: 237, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39108377

RESUMO

Background: Ependymomas, rare glial brain tumors, account for <5% of all brain tumors. Interestingly, over 60% of ependymomas occur in the spinal cord of adults, including those originating from the filum terminale, while the rest are found within the brain. The World Health Organization (WHO) categorizes ependymomas into three grades: subependymomas and myxopapillary ependymomas ([MEPNs]; WHO grade I), classic ependymomas (WHO grade II), and anaplastic ependymomas (WHO grade III). Spinal ependymomas generally exhibit a more favorable prognosis compared to their intracranial counterparts and are primarily treated through gross total resection, which is considered the most effective surgical approach. As such, they are recognized as a distinct clinical entity that demands tailored management strategies. MEPNs, which constitute 13% of ependymomas, typically occur in the cauda equina and sometimes extend into the conus medullaris. Most other spinal ependymomas are of the classic type and predominantly arise in the cervical and thoracic regions of the spine. The mean age at diagnosis is 45 years of age. While prognosis varies based on molecular subtypes, complete resection is associated with improved survival. Case Description: Here, we demonstrate the technical nuances to safely achieve gross total resection of a giant spinal ependymoma in a 29-year-old female with a medical history notable for sept-optic dysplasia, and panhypopituitarism. The patient presented with progressive neck pain, upper and lower extremity weakness, and numbness for 1 year. On physical examination, she demonstrated mild weakness in her left arm. The preoperative magnetic resonance imaging revealed a cervicothoracic intramedullary mass extending from C4 to T2 with an associated syrinx at C4. Under intraoperative neural monitoring (somatosensory evoked potentials, motor-evoked potentials, and epidural direct wave recordings), the patient underwent a C4 - T2 laminectomy. In addition, spinal ultrasonography helped differentiate solid tumor mass from syrinx formation, thus guiding the focus and extent of the decompression . Conclusion: Gross total resection was achieved; at 18 postoperative months, the patient had mild residual motor deficit. The pathological evaluation revealed a WHO grade II ependymoma. Subsequent sequential enhanced MR studies at 3, 6, and 12 months confirmed no tumor recurrence.

2.
Saudi J Biol Sci ; 31(8): 104045, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39050560

RESUMO

Background: Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder influenced by genetic and environmental factors. This study examined the specific gene variants, dopamine transporter 1 (DAT1) rs6350, dopamine receptor D3 (DRD3) rs6280, dopamine receptor D2 (DRD2) rs6277, and catechol-O-methyltransferase (COMT) rs4633, in relation to ADHD among Pakistani children by exploring the potential gene-gene and gene-environment interactions. Methods: A total of 100 cases of ADHD and 100 healthy children were recruited. The tetra-primer amplification refractory mutation system (ARMS) assays were designed for genotyping the selected variants in both groups, and their association with ADHD was determined in different genetic models. Gene-gene and gene-environmental interactions were determined by the multifactor dimensionality reduction (MDR) method. Results: The DAT1 rs6350 SNV AA genotype showed a significantly increased risk for ADHD in the codominant and recessive models. Conversely, the AG genotype demonstrated a protective factor for ADHD in the codominant and overdominant models. The DRD3 rs6280 T allele exhibited a decreased risk for ADHD, and the TT genotype showed a reduced risk in the recessive and log-additive models. No association between the DRD2 rs6277 and COMT rs4633 SNVs with ADHD was found in our population. The MDR analysis of the best three-fold interaction model showed redundancy between DAT1 rs6350 and DRD3 rs6280; however, the risk was increased with the gender variable, which showed a weak synergistic interaction with these SNVs. Conclusion: Genes associated with dopaminergic neurotransmission may contribute to the occurrence of ADHD. Furthermore, gene-gene and gene-environmental interactions may increase ADHD susceptibility.

3.
Brain Sci ; 14(7)2024 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-39061387

RESUMO

The insular cortex, a critical hub in the brain's sensory, cognitive, and emotional networks, remains an intriguing subject of study. In this article, we discuss its intricate functional neuroanatomy, emphasizing its pivotal role in processing olfactory information. Through concise exploration, we delve into the insula's diverse connectivity and its involvement in sensory integration, particularly in olfaction. Stimulation studies in humans reveal compelling insights into the insula's contribution to the perception of smell, hinting at its broader implications for cognitive processing. Additionally, we explore an avenue of research in which studying olfactory processing via insular stimulation could unravel higher-level cognitive processes. This innovative approach could help give a fresh perspective on the interplay between sensory and cognitive domains, offering valuable insights into the neural mechanisms underlying cognition and emotion. In conclusion, future research efforts should emphasize a multidisciplinary approach, combining advanced imaging and surgical techniques to explore the intricate functions of the human insula. Moreover, awake craniotomies could offer a unique opportunity for real-time observation, shedding light on its neural circuitry and contributions to higher-order brain functions. Furthermore, olfaction's direct cortical projection enables precise exploration of insular function, promising insights into cognitive and emotional processes. This multifaceted approach will deepen our understanding of the insular cortex and its significance in human cognition and emotion.

4.
J Prosthodont ; 33(6): 533-540, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38689452

RESUMO

PURPOSE: To evaluate how prosthetic management affects the otological and audiological state of infants with cleft lip and palate by preventing or treating otitis media (OM). MATERIALS AND METHODS: Thirty infants with cleft lip and palate (L/P) were assigned to three equal groups according to the age of prosthetic intervention; Group I: immediately after birth, Group II: 2 months old, Group III: 5 months old. Assessment of middle ear function by tympanometry and hearing quality by auditory brainstem response (ABR) under natural sleep was conducted before and after prosthetic treatment every month till 10 months of age. Data from the study groups were compared. RESULTS: No statistically significant differences were found between Gp I and Gp II in the 2nd, 3rd, and 4th months for right and left ears (p > 0.05). In the 5th month, statistically significant differences between the three groups were found in tympanometry for right (p = 0.011) and left (p = 0.024) ears also, in ABR for right (p = 0.007) and left (p = 0.011) ears. Tympanometric readings starting from the 6th till the 10th month showed no statistically significant differences between the three groups (p >0.05). The final ABR outcomes of the 10th month indicated statistically significant differences between the three groups for both ears (p = 0.027). CONCLUSIONS: Early prosthetic care could delay the development of OM, so it could potentially improve the otological and audiological state in infants with cleft L/P. However, prosthetic treatment may not be able to completely prevent or eliminate middle ear disorders.


Assuntos
Testes de Impedância Acústica , Fenda Labial , Fissura Palatina , Otite Média , Humanos , Fissura Palatina/complicações , Fissura Palatina/fisiopatologia , Fissura Palatina/cirurgia , Fenda Labial/complicações , Fenda Labial/fisiopatologia , Fenda Labial/cirurgia , Lactente , Masculino , Feminino , Otite Média/complicações , Potenciais Evocados Auditivos do Tronco Encefálico , Resultado do Tratamento
5.
Artigo em Inglês | MEDLINE | ID: mdl-38690721

RESUMO

Bone metastasis is the most common form of distant metastasis encountered within the breast cancer population. Surgical resection of bone metastases is a curative treatment option in patients who present with an isolated solitary lesion and no other associated disease. This decision is typically made following a multidisciplinary discussion. Patients can also be put forward for surgical excision of bone metastases following inadequate response to chemotherapy or radiotherapy.  With tumours located in the manubrium of the sternum, surgery serves not only to resect the bone metastasis but to provide suitable chest wall reconstruction. The goal of this approach is to maintain the structural and bony stability of the chest wall as well as that of associated structures, e.g. rib insertion or articulation of the shoulder girdle. A widely utilized approach involves excising the area of metastasis within the manubrium followed by implanting a bone cement prosthesis. Titanium plates are used to fix the bone prosthesis to the sternal body inferiorly and to the remainder of the manubrium superiorly.  We present a step-by-step video tutorial for performing a lower hemi-manubriectomy in a patient with triple-negative breast cancer. Our goal is to describe the fundamental principles and surgical techniques used to perform this procedure followed by the postoperative outcomes.


Assuntos
Neoplasias Ósseas , Manúbrio , Humanos , Feminino , Neoplasias Ósseas/cirurgia , Neoplasias Ósseas/secundário , Manúbrio/cirurgia , Neoplasias de Mama Triplo Negativas/cirurgia , Neoplasias de Mama Triplo Negativas/patologia , Pessoa de Meia-Idade
6.
J Prosthet Dent ; 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38565440

RESUMO

STATEMENT OF PROBLEM: Infants with a cleft palate often experience middle ear disease, a condition of great significance, and early prosthetic management of these infants is essential. However, any correlation between prosthetic palatal obturation and middle ear function is unclear. PURPOSE: The purpose of this clinical trial was to assess whether prosthetic palatal obturation with a feeding appliance prevented or improved middle ear problems in infants with a cleft lip and palate. MATERIAL AND METHODS: Ten infants with congenital cleft lip and palate (20 ears) were referred to the Prosthodontics department immediately after birth. Assessment of the middle ear function by tympanometry as well as hearing quality by auditory brainstem response (ABR) was conducted before the prosthetic treatment (control readings). The middle ear function and hearing quality was followed up after the prosthetic treatment every month until surgical palatal closure (tenth month). The Friedman test was applied to compare data from the various study periods. When the results were significant, the Dunn post hoc test was conducted to compare the control first week readings with those of the later periods (α=.05 for all tests). RESULTS: The preprosthetic readings of tympanometry in the first week were 90% Type A and 10% Type B for both right and left ears. Readings starting from the first to the fifth month revealed no statistically significant differences compared with the first week readings (P>.05). However, tympanometry readings starting from the sixth month (20% Type A and 80% Type B) until the tenth month (90% Type B and 10% Type C) for both ears represented a statistically significant difference compared with the first week readings (P≤.05). The preprosthetic readings of ABR in the first week showed that 90% of ears had normal hearing status and 10% had mild hearing loss. Readings starting from the first until the fifth month revealed no statistically significant differences compared with the first week readings (P>.05). However, ABR readings starting from the sixth month (20% normal hearing, 70% mild hearing loss, and 10% moderate hearing loss) until the tenth month (0% normal hearing, 80% mild hearing loss, and 20% moderate hearing loss) for both ears revealed a statistically significant difference compared with the first week readings (P≤.05). CONCLUSIONS: Prosthetic palatal obturation with a feeding appliance plays a role in delaying rather than preventing the occurrence of otitis media with effusion in infants with a cleft lip and palate and could reduce the need for ventilation tubes.

7.
Indian J Ophthalmol ; 2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38622862

RESUMO

PURPOSE: To analyze the visual and anatomical outcomes for eyes with rhegmatogenous retinal detachment (RRD) and advanced proliferative vitreoretinopathy (PVR) undergoing giant peripheral retinotomy (GPR) using 25-gauge pars plana vitrectomy (PPV). METHODS: In this retrospective multi-center study, patients with RRD with either anteroposterior or circumferential retinal shortening and advanced PVR requiring more than 90-degree GPR with/without relaxing retinotomy were included. Subjects of either gender, any age group, and with complete surgical notes were included. Outcome measures of the study included anatomical success (i.e. complete retinal re-attachment) at 6 months using survival analysis, visual outcomes, and post-operative complications. RESULTS: Forty-one eyes of 41 patients (33 males) with a mean age of 44.9 ± 21.4 years were included. At 6 months follow-up, anatomical success was seen in 29 eyes (70.7%) with a cumulative re-attachment rate of 66% (95% confidence interval = 48 = 79%). All re-detachments occurred at ≤6 months with a peak at 4-6 months (n = 9). Twenty-three eyes (56%) achieved ambulatory vision (5/200) or better. Direct perfluorocarbon liquid-silicone oil exchange was performed in 20 eyes. Intra-operative complications included persistent retinal folds (2 eyes), subretinal air (1 eye), and subretinal bleed (1 eye). Eleven eyes (26.8%) developed secondary glaucoma (2 eyes required a drainage device), and hypotony of ≤6 mmHg was noted in 3 eyes (7.3%). Corneal decompensation was noted in 8 eyes (19.5%), and 3 eyes (7.3%) underwent re-surgery for re-RRD. CONCLUSION: After GPR using small gauge PPV, two-thirds achieve anatomical success, and over half have ambulatory vision, but overall post-operative complications can occur in more than half of the eyes.

8.
J Contemp Dent Pract ; 25(2): 141-147, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38514411

RESUMO

AIM: To compare between the rehabilitation of atrophied maxilla with fixed prosthesis using two posterior zygomatic implants and two conventional anterior implants or four implants inserted according to the all-on-four concept regarding the patient quality of life and satisfaction after one year of prosthesis insertion. MATERIALS AND METHODS: Thirty-six patients with atrophic edentulous maxillae were randomized into two groups: Group I (rehabilitated with fixed prostheses supported by two zygomatic and two conventional implants in the anterior region) and group II (fixed prostheses on four implants in the anterior region following an all-on-four concept). One year after the placement of the definitive prostheses, patients completed oral health impact profile-14 and satisfaction questionnaires. RESULTS: All patients were satisfied regarding retention, stability, occlusion, comfort, cleaning, speaking, chewing, bolus quality, appearance, handling, prosthesis apart, and embarrassing, with no significant significance between two groups except satisfaction with surgical procedures and healing period. CONCLUSIONS: Using two distally tilted zygomatic implants or all-on-four concept to rehabilitate atrophied maxilla by fixed detachable prosthesis could be considered a promising functional and esthetic treatment option regarding the patient satisfaction. CLINICAL SIGNIFICANCE: Traditionally, treatment of maxillary atrophied ridges was done by bone grafting or sinus-lifting techniques; however, using all-on-four concept or zygomatic implants was a successful treatment as it has high success rates and highly satisfied by the patients. How to cite this article: Nagib MA, Ibrahim AM, Abdel-Rahman FH, et al. Evaluation of Quality of Life and Satisfaction with Fixed Prostheses on Zygomatic Implants vs All-on-Four Concept: A Randomized Clinical Study. J Contemp Dent Pract 2024;25(2):141-147.


Assuntos
Implantes Dentários , Arcada Edêntula , Humanos , Qualidade de Vida , Estética Dentária , Satisfação do Paciente , Prótese Dentária Fixada por Implante , Maxila/cirurgia , Implantação Dentária Endóssea/métodos , Arcada Edêntula/cirurgia , Arcada Edêntula/reabilitação , Seguimentos , Resultado do Tratamento
10.
J Neurosurg Case Lessons ; 6(15)2023 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-37910014

RESUMO

BACKGROUND: Hürthle cell carcinoma (HCC) is an unusual and aggressive variant of the follicular type of differentiated thyroid cancer (DTC), accounting for less than 3% of DTCs but posing the highest risk of metastasis. Brain metastases are uncommonly reported in the literature but pose a poor prognosis. The low rate of brain metastases from HCC coupled with ambiguous treatment protocols for the extracranial disease complicate successful disease management and definitive treatment strategy. The authors present the case of a patient with HCC metastasis to the skull base, cortex, and spine with recent tibial metastasis. OBSERVATIONS: Despite the presence of metastasis to the cortex, skull base, and spine, the patient responded very well to radiation therapy, sellar mass resection, and cervical spine decompression and fixation and has made a remarkable recovery. LESSONS: The authors' multidisciplinary approach to the patient's care, including a diverse team of specialists from oncology, neurosurgery, orthopedic surgery, radiology, endocrinology, and collaboration with clinical trial researchers, was fundamental to her successful outcome, demonstrating the utility of intersecting specialties in successful outcomes in neuro-oncological patient care.

11.
Front Oncol ; 13: 1279806, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37881491

RESUMO

Glioblastoma (GBM) is fatal and the study of therapeutic resistance, disease progression, and drug discovery in GBM or glioma stem cells is often hindered by limited resources. This limitation slows down progress in both drug discovery and patient survival. Here we present a genetically engineered human cerebral organoid model with a cancer-like phenotype that could provide a basis for GBM-like models. Specifically, we engineered a doxycycline-inducible vector encoding shRNAs enabling depletion of the TP53, PTEN, and NF1 tumor suppressors in human cerebral organoids. Designated as inducible short hairpin-TP53-PTEN-NF1 (ish-TPN), doxycycline treatment resulted in human cancer-like cerebral organoids that effaced the entire organoid cytoarchitecture, while uninduced ish-TPN cerebral organoids recapitulated the normal cytoarchitecture of the brain. Transcriptomic analysis revealed a proneural GBM subtype. This proof-of-concept study offers a valuable resource for directly investigating the emergence and progression of gliomas within the context of specific genetic alterations in normal cerebral organoids.

12.
Artigo em Inglês | MEDLINE | ID: mdl-37818761

RESUMO

Diaphragm paralysis can lead to significant dyspnoea and, in severe cases, the need for invasive ventilation. Surgical repair via diaphragm plication remains the only surgical option for these patients. Nerve transplantation and pacing have not proven to be effective alternatives. Nevertheless, diaphragm plication, whether through a thoracotomy or via minimally invasive techniques, has proven to yield high recurrence rates during the years following plication surgery. Re-exploration of recurrent cases has identified that plication relapse may be caused secondary to the elasticity of the non-plicated stretched muscle fibres. In contrast, a tendon does not possess elastic properties like those of muscle fibres and thus is not liable to expand gradually over time. We present a novel, minimally invasive technique for diaphragm plication that involves plication of a non-elastic central tendon to a fixed chest wall (central tendon fixation). Utilizing a robotic-assisted approach, our goal was to describe the techniques involved in achieving successful diaphragm plication with mid-term results (2-year follow-up).


Assuntos
Diafragma , Procedimentos Cirúrgicos Robóticos , Humanos , Diafragma/cirurgia , Resultado do Tratamento , Estudos Retrospectivos , Recidiva Local de Neoplasia
13.
Sci Rep ; 13(1): 17352, 2023 10 13.
Artigo em Inglês | MEDLINE | ID: mdl-37833422

RESUMO

A green, fast and robust solvent-free chromatographic method has been developed for concomitant analysis of ciprofloxacin HCl and metronidazole in bulk powder as well as in dosage form using levofloxacin as internal standard (I.S.). Two different designs including fractional factorial (FFD) and Box-Behnken (BBD) designs were implemented for screening and optimization steps, respectively. The optimum chromatographic separation was accomplished using mobile phase composed of 0.13 M sodium dodecyl sulfate and 0.02 M Birij-35 solution adjusted to pH 2.5 using phosphoric acid at a flow rate of 1.3 mL/min and column oven temperature of 40 °C. Chromatographic analysis was performed on X-Bridge (150 mm × 4.6 mm, 5 µm) column with UV detection at 280 nm. A linear response was acquired over the range of 0.4-50 µg/mL for both drugs. The developed method was applied for quantitation of cited drugs in commercially available tablet with mean percent recovery ± SD of 99.45 ± 0.72 and 100.13 ± 0.81 for metronidazole and ciprofloxacin respectively. The method was proven to be green as evaluated by three greenness assessment tools. The run time was 8 min, thus saving time and reagent.


Assuntos
Ciprofloxacina , Metronidazol , Micelas , Cromatografia Líquida/métodos , Cromatografia Líquida de Alta Pressão/métodos
14.
J Pharm Biomed Anal ; 236: 115705, 2023 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-37690186

RESUMO

The purpose of this study is to develop a novel method for synthesizing silver nanoparticles using glucosamine as reducing agent and to utilize the developed method for colorimetric detection and quantitative determination of the non-chromophoric drug, glucosamine. Silver nanoparticles are prepared by reducing 0.02 mol/L silver nitrate by glucosamine in 0.075 mol/L ammonia and stabilizing the nanoparticles with 0.1% polyvinylpyrrolidone and the mixture is heated at 90 °C for 5 min. The prepared silver nanoparticles dispersed in water exhibit a bright yellow color due to a localized surface plasmon resonance band at 412 nm. The principle of glucosamine sensing is based on measuring the intensity of the surface plasmon resonance band at 412 nm which is directly proportional to the concentration of glucosamine with a linearity range (1 - 9 µg/mL), limit of detection 0.33 µg/mL and limit of quantitation 1.0 µg/mL. The proposed method was validated according to the ICH guidelines, and it was found to be accurate, precise, selective, and robust. The method was applied for determination of glucosamine in Joflex® capsules using the standard addition approach with mean % recovery ± standard deviation of 100.077 ± 1.786. The method is simple, rapid, and cost-effective and can be used for determination of glucosamine in bulk and in its pharmaceutical preparations.

15.
J Sep Sci ; 46(21): e2300216, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37654046

RESUMO

This work describes the innovative experimental design-assisted development of a green gradient chromatographic method for concomitant analysis of metronidazole (MTR) and spiramycin (SPR). Two different designs including fractional factorial and Box-Behnken designs were implemented for screening and optimization steps, respectively. The optimum chromatographic conditions involved a mobile phase consisting of ethanol and 20 mM sodium dihydrogen phosphate solution (pH adjusted to 2.5) in the ratio 2:98 (v/v) for 2 min then the ratio changed to 30:70 (v/v). The flow rate was 1.3 mL/minute. Separation and analysis were performed on X-bridge C18 (150 mm × 4.6 mm × 3.5 µm) column with diode array detector set at 230 nm. Column oven temperature was 40°C. A linear response was acquired over the range of 5-125 µg/mL for both drugs. Detection and quantitation limits were 0.86 and 2.62 µg/mL for MTR and 0.92 and 2.83 µg/mL for SPR, respectively. The method was implemented for determination of both drugs in three tablet formulations. The method was proved to be green as evaluated by three assessment tools. The application of experimental designs assists in development of a robust green chromatographic method in gradient elution mode for determination of both drugs within reasonable time.


Assuntos
Metronidazol , Espiramicina , Espiramicina/análise , Projetos de Pesquisa , Cromatografia Líquida de Alta Pressão/métodos , Comprimidos
16.
Sci Rep ; 13(1): 13536, 2023 08 19.
Artigo em Inglês | MEDLINE | ID: mdl-37598247

RESUMO

The ability to model physiological systems through 3D neural in-vitro systems may enable new treatments for various diseases while lowering the need for challenging animal and human testing. Creating such an environment, and even more impactful, one that mimics human brain tissue under mechanical stimulation, would be extremely useful to study a range of human-specific biological processes and conditions related to brain trauma. One approach is to use human cerebral organoids (hCOs) in-vitro models. hCOs recreate key cytoarchitectural features of the human brain, distinguishing themselves from more traditional 2D cultures and organ-on-a-chip models, as well as in-vivo animal models. Here, we propose a novel approach to emulate mild and moderate traumatic brain injury (TBI) using hCOs that undergo strain rates indicative of TBI. We subjected the hCOs to mild (2 s[Formula: see text]) and moderate (14 s[Formula: see text]) loading conditions, examined the mechanotransduction response, and investigated downstream genomic effects and regulatory pathways. The revealed pathways of note were cell death and metabolic and biosynthetic pathways implicating genes such as CARD9, ENO1, and FOXP3, respectively. Additionally, we show a steeper ascent in calcium signaling as we imposed higher loading conditions on the organoids. The elucidation of neural response to mechanical stimulation in reliable human cerebral organoid models gives insights into a better understanding of TBI in humans.


Assuntos
Lesões Encefálicas Traumáticas , Lesões Encefálicas , Fenômenos Fisiológicos do Sistema Nervoso , Animais , Humanos , Mecanotransdução Celular , Encéfalo
17.
Clin Dysmorphol ; 32(4): 156-161, 2023 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-37646764

RESUMO

Treacher Collins syndrome (TCS) is a rare disorder of craniofacial development following different patterns of inheritance. To date, mutations in four genes ( TCOF1, POLR1D, POLR1C , and POLR1B ) have been found to cause the condition. The molecular defect remains unidentified in a significant proportion of patients. In the current study, whole exome sequencing including analysis of copy number variants was applied for genetic testing of eight Egyptian patients with typical TCS phenotype, representing the first molecular analysis of TCS patients in Egypt as well as in Arab countries. Five heterozygous frameshift mutations were reported, including four variants in the TCOF1 gene (c.3676_3694delinsCTCTGG, c.3984_3985delGA, c.4366_4369delGAAA, and c.3388delC) and one variant in the POLR1D gene (c.60dupA). Four variants were novel extending the disease mutation spectrum. In three affected individuals, no variants of interest were identified in genes associated with TCS or clinically overlapping conditions. Additionally, no relevant variant was detected in genes encoding other subunits of RNA polymerase (pol) I. Molecular analysis is important to provide accurate genetic counseling. It would also contribute to reduced disease incidence. Further studies should be designed to investigate other possible etiologies when no pathogenic variants were revealed in either of the known genes.


Assuntos
Disostose Mandibulofacial , Humanos , Egito , Disostose Mandibulofacial/diagnóstico , Disostose Mandibulofacial/genética , Mutação da Fase de Leitura , Aconselhamento Genético , Testes Genéticos , RNA Polimerases Dirigidas por DNA/genética
18.
J Contemp Dent Pract ; 24(4): 238-243, 2023 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-37469262

RESUMO

AIM: The aim of this present study was to compare two placement designs of four implants used to support a telescopic mandibular overdenture regarding the marginal bone height changes. MATERIALS AND METHODS: Each patient received four implants. Two anterior implants were installed vertically in the canine area. Patients were randomized into two groups according to the direction of posterior implants installed in the premolar area. Group I: where the implants were installed vertically parallel to the anterior implants and group II: where the implants were installed 30º distally. The implants were delayed loaded with a telescopic mandibular overdenture. The implant's marginal bone changes were evaluated after 6 and 12 months of overdenture insertion. RESULTS: Mean marginal bone loss of anterior implants showed a statistically significant difference between both groups. The vertically parallel posterior implants in group I showed statistically significant higher marginal bone loss than posterior implants in group II after follow-up periods. The 30º distally tilted posterior implants maintained the implant marginal bone after 12 months of overdenture insertion. CONCLUSION: Rehabilitation of the edentulous mandible with telescopic overdenture supported by four parallel implants is a promising successful treatment option. CLINICAL SIGNIFICANCE: Tilting the posterior implants will improve the anteroposterior spread that in turn increases the support and the survival rate of the implants. Also, using this technique gives us an opportunity to use fewer implants.


Assuntos
Perda do Osso Alveolar , Implantes Dentários , Arcada Edêntula , Humanos , Resultado do Tratamento , Estudos Prospectivos , Revestimento de Dentadura , Prótese Dentária Fixada por Implante , Mandíbula/cirurgia , Arcada Edêntula/cirurgia , Seguimentos , Perda do Osso Alveolar/diagnóstico por imagem
19.
Heliyon ; 9(7): e17847, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37483754

RESUMO

This study explores the connection between business strategies, ESG performance, and the probability of bankruptcy. Using a sample comprising 1970 U.S. firm-year observations from 2016 to 2020, this study adopts several techniques to achieve its goals, including the partial least squares structural equation modeling (PLS-SEM) algorithm and additional analyses. The results demonstrate that a firm with a better cost leadership strategy has higher ESG performance. A sound cost leadership strategy and ESG performance negatively influence a firm's likelihood of financial distress. Using a mediating analysis model, we also find that financial and ESG performance mediate and mitigate the probability of experiencing financial distress through a cost leadership strategy, indicating that these are essential factors that cannot be ignored when mitigating bankruptcy probability. Financial performance also mediates and mitigates the probability of experiencing financial distress through the ESG path. This study adds to the existing body of knowledge by revealing the role of sound business strategies and ESG performance in mitigating the likelihood of financial distress, an under-explored topic. It also analyzes the mediation roles of financial and ESG performance to provide significant insights to companies' decision-makers in order to support them in their endeavors toward performance improvement and achieving best practices.

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